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在第3外显子中引入了一个单点突变(C>T)，将Arg98密码子替换为Cysteine密码子(p.Arg98Cys)。去除了由loxP序列引导的Neomycin抗性基因片段，该片段通过Cre介导的重组从第3内含子中移除。这项突变模拟了某些人类早发型Charcot-Marie-Tooth病类型1B(CMT1B)患者中发现的突变。(来源：J:241742)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
